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"Disease, Gaucher type 1"¿¡ ´ëÇÑ °Ë»ö °á°úÀÔ´Ï´Ù. °Ë»ö °á°ú º¸´Â µµÁß¿¡ Tab ۸¦ ´©¸£½Ã¸é °Ë»ö âÀÌ ¼±Åõ˴ϴÙ.
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¿µ¹® rheumatic heart disease ÇÑ±Û ·ù¸¶Æ¼½º½ÉÀ庴
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  Áø´ÜÀº Á¸ÀÇ ±âÁØ¿¡ ÀÇÇÑ´Ù.
  
  (1) ÁÖ¿ä±âÁØÀº °üÀý¿° ½ÉÀå¿°(½ÉÀåºñ´ë, ½ÉÀåÀâÀ½, ½ÉÀå±â´É»ó½Ç µî) ¹«µµÁõ: ¹«´çÀÌ ÃãÀ» Ãߴ °Í °°Àº ÇൿÀÇ ¹ßÀÛÁõ¼¼. ¿¬º¯È«¹Ý: »¡°£ Å׵θ®¸¦ °¡Áø ÇǺκ´º¯Àº ÇÇÇϰáÀý(subcutaneous nodule): ÇǺΠ¹Ø¿¡ »ý±ä °áÀý,
  
  (2)Âü°í ±âÁØÀº ¿­, °üÀýÅë, EKG»ó PR¿¬Àå: ½ÉÀüµµ ¼Ò°ß ±Þ¼º±â ¹ÝÀÀ¹°Áú(¿¹: ESR, CRP)ÀÇ »ó½Â, ·ù¸¶Æ¼½º¿­
  
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¿µ¹® chronic obstructive pulmonary disease ÇÑ±Û ¸¸¼ºÆó¼âÆóº´
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  ¸¸¼º±â°üÁö¿°À̶õ ±â°üÁöÀÇ ¸¸¼º¿°ÁõÀ» ¸»ÇÑ´Ù. ±â°üÁöÀÇ ¿°ÁõÀ¸·Î ÀÎÇØ¼­ ±â°üÁöÀÇ Á¡¸·¿¡ ºÎÁ¾ÀÌ »ý±â°í À̷ΠÀÎÇØ¼­ ±â°üÁöÀÇ ³»°æÀÌ Á¼¾ÆÁ®¼­ ±âµµÀÇ Æó¼â¸¦ °¡Á®¿Â´Ù. ´ë°³ Èí¿¬°ú ¹ÐÁ¢ÇÑ ¿¬°üÀ» °¡Áö¸ç, È£Èí°ï¶õ, ±âħ, ±×¸®°í °¡·¡(´ë°³ »öÀ̠Ǫ¸£°í Á¡µµ°¡ ³ôÀº °¡·¡)°¡ Áõ»óÀ¸·Î ³ªÅ¸³­´Ù.
  
  Æó±âÁ¾Àº ±â°üÁöÀÇ º®À» ÁöÁöÇϴ Á¶Á÷ÀÇ ÆÄ±«¿¡ ÀÇÇØ¼­ ±â°üÁö°¡ Á¦ ¸ð¾çÀ» °®ÃßÁö ¸øÇÏ°í ¹«³ÊÁö°Ô µÇ¾î ±âµµÀÇ Æó¼â°¡ ÀϾ´Â º´ÀÌ´Ù. Áï ±â°üÁö°¡ °ü ¸ð¾çÀ¸·Î ÆØÆØÇϰԠÆìÁö´Â °ÍÀ» ÁöÁöÇϴ Á¶Á÷ÀÇ ÆÄ±«¿¡ ÀÇÇØ¼­ °ü¸ð¾çÀ¸·Î ÆìÁöÁö ¸øÇØ °á±¹Àº ÆóÆ÷³»¿¡ °ø±â°¡ Â÷°í ÆóÆ÷º®ÀÌ ÆÄ¿­µÇ°í ±â°üÁö°¡ Á¼¾ÆÁö°Ô µÇ´Â º´À» ¸»ÇÑ´Ù.
  
  ±â°üÁöõ½ÄÀ̶õ ¿©·¯ °¡Áö Àڱؿ¡ ´ëÇØ¼­ ±â°üÁö°¡ °ú¹ÎÇÑ ¹ÝÀÀÀ» º¸¿©¼­ »ý±â´Â ±â°üÁöÀÇ °¡¿ªÀûÀΠÆó¼â¸¦ ÀǹÌÇÑ´Ù. Áï Á¤»óÀο¡°Ô¼­´Â ±â°üÁöÀÇ Æó¼â¸¦ º¸ÀÌÁö ¾Ê´Â Àڱؿ¡ ´ëÇØ¼­ ±â°üÁöÀÇ Æó¼â°¡ »ý±â°í ±× ÀÚ±ØÀÌ ¾øÀ» °æ¿ì¿¡´Â ±â°üÁöÀÇ Æó¼â°¡ ¾ø¾îÁö´Â º´À» ¸»ÇÑ´Ù. 
¿µ¹® Buerger disease ÇÑ±Û ¹ö°Åº´
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  ¸»ÃÊ µ¿¸Æ°ú Á¤¸Æ¿¡ ¿°ÁõÀ» ÀÏÀ¸Å°´Â º´. Ã»Àå³âÃþÀÇ ³²ÀÚ¿¡°Ô Àß °É¸®´Â ´Ù¸® µ¿¸Æ¿¡ »ý±â´Â º´À¸·Î µ¿¸ÆÀÌ ¸·È÷°í ÅëÁõ ¶§¹®¿¡ ¹ßÀ» Àý±âµµ Çϴµ¥ ¿øÀÎÀº ¾Ë·ÁÁ® ÀÖÁö ¾Ê´Ù. º´¸íÀº ÀÌ º´À» ÃÖÃʷΠ»ó¼¼ÇϰԠº¸°íÇÑ ¹Ì±¹ÀÇ ÀÇ»ç L. ¹ö°Å(1879~1943)ÀÇ À̸§¿¡¼­ ¿¬À¯ÇÑ´Ù. µ¿¾çÀο¡°Ô ¸¹Àº º´À¸·Î, ´ëºÎºÐ ÀþÀº ³²¼º, Æ¯È÷ Àå³â±â ³²¼º¿¡°Ô¼­ ³ªÅ¸³­´Ù. ¿øÀÎÀº ¾Ë ¼ö ¾øÀ¸³ª Èí¿¬ÀÌ º´ÀÇ ¾ÇÈ­¸¦ ÃÊ·¡ÇÑ´Ù. »çÁöÀÇ µ¿¸Æ°ú Á¤¸Æ¿¡ ¿°ÁõÀÌ ÀϾ Ç÷ÀüÀÌ »ý±â¸é ³»°­À» ¸·¾Æ Ç÷¾×ÀÌ È帣Áö ¸øÇϰԠµÇ¾î ±× ¾ÕÀÇ ¸»ÃÊÁ¶Á÷ÀÌ ±«»ç¿¡ ºüÁö°Å³ª ¼Õ¹ßÀÌ Â÷°©°í, ¼Õ°¡¶ô-¹ß°¡¶ôÀÌ º¸¶ó»ö ¶Ç´Â °ËÀº»öÀ¸·Î º¯ÇÑ´Ù. ¶Ç, ÀÌ Áõ¼¼°¡ °è¼ÓµÇ´Â µ¿¾È ¼Õ¹ß°¡¶ô¿¡ ÅëÁõÀÌ ÀϾ°í ±Ë¾çÀÌ ¹ß»ýÇÑ´Ù. Ä¡·á´Â Áõ¼¼ÀÇ Á¤µµ¿Í Æó»öµÈ Ç÷°üÀÇ ºÎÀ§¿¡ µû¶ó ¿¬°í¸¦ ¹Ù¸£°Å³ª Ç÷°üÈ®ÀåÁ¦-¼øÈ¯°³¼±Á¦-Ç÷¼ÒÆÇÀÀÁý¾ïÁ¦Á¦¸¦ »ç¿ëÇϳª, ¾î¶² Ä¡·áµµ È¿°ú°¡ ¾øÀ» °æ¿ì ¼Õ¹ß°¡¶ôÀÇ ¼ÒÀý´Ü, µå¹°°Ô´Â ¹«¸­ ÀÌÇÏÀÇ ´ëÀý´ÜÀ» ÇؾߠÇÑ´Ù. ÀϹÝÀûÀ¸·Î ÀÌ º´ÀÇ ¿¹ÈĴ ¾çÈ£ÇÏ¿© Ç÷·ù°¡ È¸º¹µÇ°í ±Ë¾ç¸¸ Ä¡·áµÇ¸é Àç¹ßÀÌ Àû´Ù.
¿µ¹® Behcet disease ÇÑ±Û º£Ã¼Æ®º´
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  ½ÉÇÑ Æ÷µµ¸·¿°, ¸Á¸·Ç÷°ü¿°, ½Ã°¢½Å°æÀ§Ãà, ±¸°­-¼º±âÀÇ ¾ÆÇÁŸ¼º ±Ë¾ç, ±¤¹üÀ§ÇÑ Ç÷°ü¿°ÀǠ¡ÈĿ͠Áõ»óÀ» ³ªÅ¸³½´Ù. ¿øÀκҸíÀÇ Èñ±ÍÇÑ º´À¸·Î ÀþÀº ³²ÀÚ¿¡°Ô Àß ¹ß»ýÇÑ´Ù.
¿µ¹® congenital heart disease ÇÑ±Û ¼±Ãµ½ÉÀ庴
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  ¼±ÃµÀûÀ¸·Î ½ÉÀåÀÇ ±¸Á¶¿¡ ÀÌ»óÀÌ Àִ º´.
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  • ¿µ¹®
    ÇѱÛ
  • hyperlipidemia type V
    5Çü°íÁöÇ÷Áõ
  • hypertrophic type
    ºñ´ëÇü
  • hebephrenic type schizophrenia
    ÆÄ°úÇüÁ¤½ÅºÐ¿­º´
  • hemispheric type
    ¹Ý±¸Çü
  • hemochorial type
    À¶Ç÷¸ðÇü
  • introversion type
    ³»ÇâÇü
  • intuitive type
    Á÷°üÇü
  • linear type constitution
    ¼±ÇüüÇü
  • mating type
    ±³¹èÇü
  • meromyarian type
    ºÎºÐ±ÙÀ°Çü
  • nomenclatural type
    ºÐ·ùÇÐÀû±âÁظí
  • organic reaction type
    ±âÁú¹ÝÀÀÇü
  • ovulatory type
    ¹è¶õÇü
  • polymyarian type
    ´Ù±ÙÀ°Çü
  • precision type attachment
    Á¤¹ÐÇüºÎÂø
´ëÇÑÀÇÇù Çʼö ÀÇÇпë¾îÁý »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 2
  • ¿µ¹®
    ÇѱÛ
  • congenital heart disease
    ¼±Ãµ½ÉÀ庴
  • Crohn's disease
    Å©·Ðº´
  • Cushing's disease
    Äí½Ìº´
  • de Quervain's disease
    µåÄõº£Àκ´
  • degenerative disease
    ÅðÇິ
  • fibrocystic disease
    ¼¶À¯³¶º´
  • glomerular disease
    Å丮º´, »ç±¸Ã¼Áúȯ
  • Hashimoto's disease
    ÇϽøðÅ亴
  • Hirschsprung's disease
    (¢¡ congenital megacolon) È÷¸£½´½´ÇÁ·îº´
  • hyaline membrane disease
    À¯¸®Áú¸·º´
  • infectious disease
    °¨¿°º´
  • inflammatory bowel disease
    ¿°ÁõâÀÚÁúȯ
  • inherited disease
    À¯Àüº´
  • Legg-Calve-Perthes disease
    (¢¡ostetochondrosis of the capitualar epiphysis of th) ·¹±×Ä®º£Æä¸£Å×½ºº´, ³Ò´Ù¸®»À¸Ó¸®»À³¡»À¿¬°ñÁõ
  • life style disease
    »ýȰ½À°üº´
¿¾ ´ëÇÑÀÇÇù ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 2
  • ¿µ¹®
    ÇѱÛ
  • disorganized type schizophrenia
    ºØ±«Á¤½ÅºÐ¿­º´
  • dromedary type
    ´ÜºÀÇü
  • dysplastic type
    Çü¼ºÀÌ»óÇü
  • expansive type
    °ú´ëÇü
  • extroverted type
    ¿ÜÇâÇü
  • extroverted feeling type
    ¿ÜÇâÀû°¨Á¤Çü
  • Golgi type I neuron
    ±äÃà»è½Å°æ¼¼Æ÷
  • Golgi type II neuron
    ªÀºÃà»è½Å°æ¼¼Æ÷
  • hebephrenic type schizophrenia
    ÆÄ°úÁ¤½ÅºÐ¿­º´
  • hemispheric type
    ¹Ý±¸Çü
  • hemochorial type
    À¶Ç÷¸ðÇü
  • holomyarian type
    ¿ÏÀü±ÙÀ°Çü
  • hypertrophic type
    ºñ´ëÇü
  • tuberculin-type hypersensitivity
    (¢¡delayed-type hypersensitivity) Áö¿¬°ú¹Î
  • introversion type
    ³»ÇâÇü
¿¾ ´ëÇÑÀÇÇù 2 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 2
  • ¿µ¹®
    ÇѱÛ
  • Ogawa type
    ¿À°¡¿ÍÇü
  • RF coil type
    °íÁÖÆÄ ÄÚÀÏ À¯Çü
  • T-type channel
    T-Çü Åë·Î
  • aberrant type
    ÀÌÇü(ì¶úþ)
  • abortive type
    ºÎÀüÇü(ÝÕîïúþ).
  • acute fulminating type
    ±Þ¼º Àü°ÝÇü.
  • agammaglobulinemia,x-linked, bruton type
    ¼º¿°»öü ¿¬°ü¼º, ºê·çÅæÇü(àõæøßäô÷ æáμàõ, ¡­úþ)
  • anovulatory type
    ¹«¹è¶õÇü
  • glomus type of arteriovenous anastomosis
    Å丮Çüµ¿Á¤¸Æ¿¬°á
  • golgi type i neuron
    ±äÃà»è½Å°æ¼¼Æ÷
  • golgi type ii neuron
    ªÀºÃà»è½Å°æ¼¼Æ÷
  • growth onset type diabetes
    Ãʱâ´ç´¢º´.
  • hebephrenic type
    ÆÄ°úÇü(÷òÍþúþ)
  • hemochorial type
    À¶Ç÷¸ðÇü(ëÖúìÙ¾úþ).
  • hemoglobin C type
    CÇü Ç÷»ö¼Ò
¿¾ ´ëÇÑÀÇÇù 3 ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 2
  • ¿µ¹®
    ÇѱÛ
  • blood type
    Ç÷¾×Çü(Ì´ËâÌ´).
  • blood type
    Ç÷¾×Çü(úìäûúþ)
  • body type
    üÇü
  • body type
    üÇü(ô÷úþ).
  • bubble type vaporizer
    ±âÆ÷Çü ±âÈ­±â
  • calcified hypertrophic type
    ¼®È¸È­ºñ´ëÇü
  • catatonic type
    ±äÀåÇü
  • cellular type dermatofibroma
    ¼¼Æ÷Çü ÇǺμ¶À¯Á¾
  • chief cell type i glomus cell
    °ú¸³¼¼Æ÷
  • cryptogenic type
    ÀáÀçÇü(ËöËøÌ´).
  • cryptogenic type
    ÀáÀçÇü(íÖî¤úþ).
  • crystal type
    °áÁ¤Çü
  • culture, type
    Ç¥ÁرÕÁÖ, ±âÁØÁÖ
  • cyclicodevelopmental type
    ÁÖ±âÀû ¹ßÀ°Çü(ÊÙËÑËôÌ´).
  • cyclicopropagative type
    ÁÖ±âÀû Áõ½ÄÇü(ÊÙÌ¡ËàÌ´).
´ëÇÑÇØºÎÇÐȸ ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 11 ÆäÀÌÁö: 2
  • ¿µ¹®
    ÇѱÛ
  • Glomus type of arteriovenous anastomosis
    Å丮Çüµ¿Á¤¸Æ¿¬°á
    [¿¾ ¿ë¾î] ±¸Çüµ¿Á¤¸Æ¹®ÇÕ
  • Mixed type of artery
    È¥ÇÕÇüµ¿¸Æ
    [¿¾ ¿ë¾î] È¥ÇÕÇüµ¿¸Æ
  • Chief cell [Type I glomus cell]
    °ú¸³¼¼Æ÷
    [¿¾ ¿ë¾î] ÁÖ¼¼Æ÷
  • Pneumocyte type II
    °ú¸³ÇãÆÄ²Ê¸®¼¼Æ÷
    [¿¾ ¿ë¾î] ´ëÆóÆ÷¼¼Æ÷
  • Golgi type I neuron
    ±äÃà»è½Å°æ¼¼Æ÷
    [¿¾ ¿ë¾î] ÀåÃà»è´Ù±Ø½Å°æ¿ø
  • Supporting cell [Type II glomus cell]
    ¹öÆÀ¼¼Æ÷
    [¿¾ ¿ë¾î] ÁöÁö¼¼Æ÷
  • Supporting cell [Type II glomus cell]
    ¹öÆÀ¼¼Æ÷
    [¿¾ ¿ë¾î] ÁöÁö¼¼Æ÷(Á¦2Çü»ç±¸¼¼Æ÷)
  • Hypertrophic type
    ºñ´ëÇü
    [¿¾ ¿ë¾î] ºñ´ëÇü
  • Fibrous type of vein
    ¼¶À¯ÇüÁ¤¸Æ
    [¿¾ ¿ë¾î] ¼¶À¯ÇüÁ¤¸Æ
  • Golgi type II neuron
    ªÀºÃà»è½Å°æ¼¼Æ÷
    [¿¾ ¿ë¾î] ´ÜÃà»è´Ù±Ø½Å°æ¿ø
  • Pneumocyte type I
    È£ÈíÇãÆÄ²Ê¸®¼¼Æ÷
    [¿¾ ¿ë¾î] È£Èí»óÇǼ¼Æ÷
´ëÇÑ»ýÈ­ÇкÐÀÚ»ý¹°ÇÐȸ ¿ë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 2
  • ¿µ¹®
    ÇѱÛ
  • type B RNA virus
    BÇü(úþ) RNA ¹ÙÀÌ·¯½º
  • type C virus
    CÇü(úþ) ¹ÙÀÌ·¯½º
  • type C RNA virus
    CÇü(úþ) RNA ¹ÙÀÌ·¯½º
  • type I error
    IÇü(úþ) ¿ÀÂ÷(è¦ó¬)
  • type II error
    IIÇü(úþ) ¿ÀÂ÷(è¦ó¬)
  • type I immunoglobulin
    IÇü(úþ) ¸é¿ª(Øóæ¹)±Û·ÎºÒ¸°
  • type II immunoglobulin
    IIÇü(úþ) ¸é¿ª(Øóæ¹)±Û·ÎºÒ¸°
  • type K immunoglobulin
    KÇü(úþ) ¸é¿ª(Øóæ¹) ±Û·ÎºÒ¸°
  • type L immunoglobulin
    LÇü(úþ) ¸é¿ª(Øóæ¹)±Û·ÎºÒ¸°
  • type-specific antigen
    ÇüƯÀÌ Ç׿ø(úþ÷åì¶ù÷ê«)
  • Watson-Crick-type DNA
    ¿Ó½¼-Å©¸¯Çü(úþ) DNA
  • wild-type
    ¾ß»ýÇü(å¯ßæúþ)
  • wild-type allele
    ¾ß»ýÇü(å¯ßæúþ) ´ë¸³(Óߨ¡)À¯ÀüÀÚ(ë¶îîí­)
  • wild-type gene
    ¾ß»ýÇü(å¯ßæúþ) À¯ÀüÀÚ(ë¶îîí­)
  • Addison's disease
    ¿¡µð¼Õ º´(Ü»)
KI ÀÇÇпë¾î »çÀü °Ë»ö À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 2
  • ¿µ¹®
    ÇѱÛ
  • communicable disease
    Àü¿°º´
  • constitutional disease
    üÁú¼ºÁúȯ
  • coronary heart disease
    °ü»óµ¿¸Æ½ÉÁúȯ
  • Crohn's disease
    Å©·Ðº´
  • Crouzon's disease
    µÎ°³¾È¸éȸ°ñºÎÀüÁõ, Å©·çÁ¸º´
  • cyanotic heart disease
    û»ö¼º½ÉÀåÁúȯ
  • degenerative joint disease
    ÅðÇ༺°üÀýÁúȯ
  • demyelinating disease
    Å»¼öÃʼºÁúȯ
  • disease
    º´, Áúº´, Áúȯ
  • endemic disease
    Áö¹æº´, dzÅ亴
  • endocrine disease
    ³»ºÐºñÁúȯ
  • focal disease
    ÃÊÁ¡¼ºÁúȯ
  • glycogen storage disease
    ±Û¸®ÄÚ°Õ ÃàÀûÁúȯ
  • granulomatous disease
    À°¾ÆÁ¾¼ºÁúȯ
  • Hand-Schueller-Christian disease
    ÇÚµå-½¯·¯-Å©¸®½ºÂùº´
KMLE ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 2
CD cadaver donor; canine distemper; canine dose; carbohydrate dehydratase; carbon dioxide; cardiac dise...
HD Haab-Dimmer [syndrome]; Hajna-Damon [broth]; Hansen disease; hearing distance; heart disease; helix ...
MD Doctor of Medicine [Lat. Medicinae Doctor]; magnesium deficiency; main duct; maintenance dose; major...
AD accident dispensary; acetate dialysis; active disease; acute dermatomyositis; addict, addiction; ade...
PD Doctor of Pharmacy; Dublin Pharmacopoeia; interpupillary distance; Paget disease; pancreatic duct; p...
KMLE ÀÚµ¿ÃßÃâ ÀÇÇоà¾î »çÀü À¯»ç °Ë»ö °á°ú : 5 ÆäÀÌÁö: 2
type I type B
CMT1 Charcot--Marie--Tooth disease type 1
CMT1A Charcot-Marie Tooth disease type 1A
GSDII Glycogen Storage Disease type II
GSD 1a Glycogen storage disease type 1a
°æºÏ´ë Ä¡°ú´ëÇÐ ±¸°­³»°ú ±³½Ç »çÀü À¯»ç °Ë»ö °á°ú : 15 ÆäÀÌÁö: 2
  • ¿µ¹®
    ÇѱÛ
    ¼³¸í
  • dorsolumbal type
    Èä¿äºÎ Çü, ¹èÃø ¿äºÎ Çü
  • dysplastic type
    ¹ßÀ° ºÎÀü ü°Ý
  • epidermoid type cell
    À¯Ç¥ÇÇ ¼¼Æ÷
  • ferm-type design
    ¾çÄ¡·ù ÇüÅÂÀÇ µðÀÚÀÎ
  • herpes simplex virus type 1
    Á¦1Çü ´Ü¼ø Æ÷Áø ¹ÙÀÌ·¯½º
  • herpes type I vaccine
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glycogen storage disease type VI <disease> A hepatic glycogen storage disease in which there is an apparent deficiency of hepatic phosphorylase activity. However, studies have not been able to distinguish between phosphorylase deficiency and phosphorylase kinase deficiency in patients with hepatic glycogenosis.
(12 Dec 1998)
glycogen storage disease type VII <disease> An autosomal recessive muscle glycogen storage disease in which there is deficient expression of muscle phosphofructokinase activity, resulting in increased concentrations of glucose-6-phosphate and fructose-6-phosphate and low concentrations of fructose-1,6-diphosphate in muscle tissue.
Glycogen storage in muscle is increased, perhaps due to activation of glycogen synthase by accumulated glucose-6-phosphate. It has been proposed that shunting of glucose-6-phosphate and fructose-6-phosphate into the pentose phosphate pathway may result in increased synthesis of purines and pyrimidines, causing hyperuricaemia and gout.
Erythrocytes from patients may show decreased phosphofructokinase activity and 2,3-diphosphoglycerate deficiency. Exercise intolerance is present and severe congenital muscular dystrophy has been reported.
Inheritance: autosomal recessive
(12 Dec 1998)
glycogen storage disease type VIII <disease> An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon.
Inheritance: X-linked recessive
(12 Dec 1998)
acrocephalosyndactyly type 1 <paediatrics> An inherited disease (autosomal dominant) or a spontaneously occurring disease characterised by a peaked head and unusual facial appearance, due to the premature closure of the cranial sutures.
A skull X-ray can confirm the diagnosis and treatment is surgical.
Inheritance: autosomal dominant.
(27 Sep 1997)
Alzheimer type I astrocyte Enlarged frequently multinucleated astrocytes, seen in progressive multifocal leukoencephalopathy.
(05 Mar 2000)
Alzheimer type II astrocyte Enlarged astrocytes with vesicular nuclei and one or more small basophilic nucleoli, seen in hepatocerebral disease and Wilson's disease.
(05 Mar 2000)
American Type Culture Collection <cell culture> A key resource for cultured cells, located in Rockville, USA.
(12 Dec 1998)
Antoni type A neurilemoma <tumour> Relatively solid or compact arrangement of neoplastic tissue that consists of Schwann cells arranged in twisting bundles and associated with delicate reticulin fibres; the nuclei of the Schwann cells are frequently grouped in parallel rows (so-called palisades), and the nuclei and fibres sometimes form exaggerated tactile corpuscles, called Verocay bodies.
(05 Mar 2000)
Antoni type B neurilemoma <tumour> Relatively soft or loose arrangement of neoplastic tissue that consists of Schwann cells in a haphazard or nondescript type of arrangement among reticulin fibres and tiny cystlike foci; fat-laden macrophages may be observed in some of the larger neoplasms.
(05 Mar 2000)
arthus-type reaction's Reaction's in man and other species that result from the same basic immunologic (allergic) mechanism which evokes, in the rabbit, the typical Arthus phenomenon.
See: immune complex disease.
(05 Mar 2000)
avian adenovirus type 1 proteinase <enzyme> 206 aa residues of which 66% are homologous to human ad2 emzyme embl/genbank l13161
Registry number: EC 3.4.22.-
Synonym: aavl proteinase, aavl endopeptidase
(26 Jun 1999)
basic personality type An individual's unique, covert, or underlying personality propensities, whether or not they are behaviourally manifest or overt, personality characteristics of an individual which are also shared by a majority of the members of a social group.
(05 Mar 2000)
Becker type muscular dystrophy A muscular dystrophy that has many of the clinical features of Duchenne muscular dystrophy e.g., symmetrical involvement of first the pelvicrural muscles and then the pectoral girdle and proximal upper extremity muscles; pseudohypertrophy, especially of the calf muscles but with a much later age of onset (35-45 years), and more benign course. X-linked inheritance.
(05 Mar 2000)
Becker type tardive muscular dystrophy Muscular dystrophy of late onset, often in the second or third decade, with relatively mild course; X-linked recessive inheritance; perhaps allelic with Duchenne's dystrophy, but milder and not a genetic lethal.
Compare: Duchenne dystrophy.
Synonym: Becker type tardive muscular dystrophy.
(05 Mar 2000)
blood type The specific reaction pattern of erythrocytes of an individual to the antisera of one blood group; e.g., the ABO blood group consists of four major blood types: O, A, B, and AB. This classification depends on the presence or absence of two major antigens: A or B. Type O occurs when neither is present and type AB when both are present. The blood type is the genetic phenotype of the individual for one blood group system and may be determined using different antisera available for testing. See Blood Groups appendix.
(05 Mar 2000)
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